Mutagenetix > Incidental Mutation

Incidental Mutation 'R8122:Or2y1f'

631559

Institutional Source

Beutler Lab

Gene Symbol

Or2y1f

Ensembl Gene

ENSMUSG00000101750

Gene Name

olfactory receptor family 2 subfamily Y member 1F

Synonyms

GA_x6K02T2QP88-6141322-6140387, MOR256-25, Olfr1392

MMRRC Submission

067551-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.141) question?

Stock #

R8122 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

49184124-49185149 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 49184401 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 84 (N84K)

Ref Sequence

ENSEMBL: ENSMUSP00000150516 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000189851] [ENSMUST00000214170] [ENSMUST00000214598] [ENSMUST00000215861] [ENSMUST00000217275]

AlphaFold

Q8VFA6

Predicted Effect

probably damaging
Transcript: ENSMUST00000189851
AA Change: N84K

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000140904
Gene: ENSMUSG00000101750
AA Change: N84K

Domain	Start	End	E-Value	Type
Pfam:7TM_GPCR_Srsx	35	222	7.1e-8	PFAM
Pfam:7tm_1	41	289	2.4e-32	PFAM
Pfam:7tm_4	139	282	1.8e-42	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000214170
AA Change: N84K

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

Predicted Effect

probably damaging
Transcript: ENSMUST00000214598
AA Change: N84K

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

Predicted Effect

probably damaging
Transcript: ENSMUST00000215861
AA Change: N84K

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

Predicted Effect

probably damaging
Transcript: ENSMUST00000217275
AA Change: N84K

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

Meta Mutation Damage Score

0.5682

Coding Region Coverage

1x: 99.8%
3x: 99.7%
10x: 99.0%
20x: 97.5%

Validation Efficiency

98% (47/48)

MGI Phenotype

FUNCTION: Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abat	A	G	16: 8,433,761 (GRCm39)	Y426C	probably damaging	Het
Acsbg3	T	A	17: 57,193,670 (GRCm39)	V672E	possibly damaging	Het
Adgrv1	A	G	13: 81,419,037 (GRCm39)	V5986A	probably damaging	Het
Adgrv1	A	T	13: 81,588,344 (GRCm39)	V4414E	possibly damaging	Het
Ahnak2	T	C	12: 112,742,510 (GRCm39)	S521G	possibly damaging	Het
Amer2	A	T	14: 60,616,791 (GRCm39)	M329L	possibly damaging	Het
Arhgap20	A	G	9: 51,761,293 (GRCm39)	N1048S	probably damaging	Het
Asah1	T	C	8: 41,796,767 (GRCm39)	E305G	probably benign	Het
AW551984	T	A	9: 39,510,665 (GRCm39)	K223N	probably damaging	Het
Bptf	C	A	11: 106,927,417 (GRCm39)		probably null	Het
C1qtnf6	T	C	15: 78,411,446 (GRCm39)	N77D	probably benign	Het
Capn13	T	A	17: 73,674,205 (GRCm39)	I83F	probably damaging	Het
Cd6	A	G	19: 10,770,231 (GRCm39)	F487L	probably damaging	Het
Cit	T	C	5: 116,107,069 (GRCm39)	V1067A	probably damaging	Het
Cspg4b	A	T	13: 113,455,442 (GRCm39)	D496V		Het
Csrnp1	T	C	9: 119,802,273 (GRCm39)	D262G	probably damaging	Het
Cyp2d11	T	A	15: 82,276,744 (GRCm39)	Q65L	probably benign	Het
Dbt	T	A	3: 116,313,891 (GRCm39)	C19*	probably null	Het
Dgkg	A	C	16: 22,385,295 (GRCm39)		probably null	Het
Eif4g2	T	C	7: 110,677,760 (GRCm39)	I118V	possibly damaging	Het
Evl	C	T	12: 108,647,783 (GRCm39)	R295*	probably null	Het
Gpr158	A	T	2: 21,831,674 (GRCm39)	M925L	probably benign	Het
Kcnn2	T	G	18: 45,810,005 (GRCm39)	V414G	probably damaging	Het
Lama2	G	A	10: 26,930,592 (GRCm39)	H2055Y	possibly damaging	Het
Loxl3	T	A	6: 83,026,240 (GRCm39)	W443R	probably damaging	Het
Mab21l1	A	T	3: 55,690,905 (GRCm39)	D164V	probably benign	Het
Mroh7	T	C	4: 106,559,726 (GRCm39)	T734A	probably damaging	Het
Or8g35	A	G	9: 39,381,822 (GRCm39)	S67P	probably damaging	Het
Pkhd1	C	T	1: 20,632,682 (GRCm39)	E578K	probably damaging	Het
Pld2	T	A	11: 70,432,259 (GRCm39)	L126*	probably null	Het
Polk	A	T	13: 96,620,291 (GRCm39)	N716K	probably benign	Het
Ppl	C	T	16: 4,906,725 (GRCm39)	R1190H	probably damaging	Het
Prom1	T	C	5: 44,170,295 (GRCm39)	K669E	probably benign	Het
Sag	A	G	1: 87,762,289 (GRCm39)	D318G	probably damaging	Het
Scfd1	T	A	12: 51,480,052 (GRCm39)	V528E	possibly damaging	Het
Scn4a	A	G	11: 106,221,157 (GRCm39)	L834P	probably benign	Het
Shank1	G	T	7: 43,983,015 (GRCm39)	G637V	unknown	Het
Slc12a6	A	G	2: 112,097,167 (GRCm39)	M1V	probably null	Het
St6gal1	A	G	16: 23,173,644 (GRCm39)	K242R	probably benign	Het
Syt3	A	G	7: 44,045,153 (GRCm39)	Y495C	probably damaging	Het
Taar8c	C	T	10: 23,977,107 (GRCm39)	S235N	probably benign	Het
Tmem183a	A	T	1: 134,282,503 (GRCm39)	C201S	probably benign	Het
Top2a	T	C	11: 98,889,993 (GRCm39)	I1237V	probably benign	Het
Trub1	G	T	19: 57,473,563 (GRCm39)	V207L	probably benign	Het
Ttll13	T	A	7: 79,909,217 (GRCm39)	I634N	probably benign	Het
Ube2j1	T	G	4: 33,045,145 (GRCm39)	N208K	probably benign	Het
Wdr17	A	G	8: 55,118,011 (GRCm39)	S569P	probably damaging	Het

Other mutations in Or2y1f

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01066:Or2y1f	APN	11	49,184,457 (GRCm39)	missense	possibly damaging	0.55
IGL02530:Or2y1f	APN	11	49,184,555 (GRCm39)	missense	possibly damaging	0.78
IGL03026:Or2y1f	APN	11	49,184,285 (GRCm39)	missense	probably damaging	0.99
IGL03106:Or2y1f	APN	11	49,184,988 (GRCm39)	missense	probably damaging	0.99
R0357:Or2y1f	UTSW	11	49,184,613 (GRCm39)	missense	probably damaging	0.96
R0396:Or2y1f	UTSW	11	49,184,165 (GRCm39)	missense	probably benign	0.00
R2281:Or2y1f	UTSW	11	49,184,459 (GRCm39)	missense	probably benign	0.04
R4319:Or2y1f	UTSW	11	49,184,503 (GRCm39)	missense	probably damaging	1.00
R4320:Or2y1f	UTSW	11	49,184,503 (GRCm39)	missense	probably damaging	1.00
R4322:Or2y1f	UTSW	11	49,184,503 (GRCm39)	missense	probably damaging	1.00
R4323:Or2y1f	UTSW	11	49,184,503 (GRCm39)	missense	probably damaging	1.00
R5327:Or2y1f	UTSW	11	49,184,493 (GRCm39)	missense	probably damaging	1.00
R6749:Or2y1f	UTSW	11	49,184,877 (GRCm39)	missense	probably damaging	1.00
R7779:Or2y1f	UTSW	11	49,185,048 (GRCm39)	missense	probably damaging	1.00
R8356:Or2y1f	UTSW	11	49,184,385 (GRCm39)	missense	probably damaging	1.00
R8456:Or2y1f	UTSW	11	49,184,385 (GRCm39)	missense	probably damaging	1.00
R8737:Or2y1f	UTSW	11	49,184,965 (GRCm39)	missense	probably damaging	1.00
R8746:Or2y1f	UTSW	11	49,183,993 (GRCm39)	intron	probably benign
R9375:Or2y1f	UTSW	11	49,184,902 (GRCm39)	nonsense	probably null
X0012:Or2y1f	UTSW	11	49,184,760 (GRCm39)	missense	probably benign	0.36
X0025:Or2y1f	UTSW	11	49,184,780 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TGGCCTGCACTAGAACTCATC -3'
(R):5'- TTCAAGAAGCCTCCTACCCAGG -3'

Sequencing Primer
(F):5'- TCCCGAATGGACCTTCAA -3'
(R):5'- CCAATGCCTGGCAGAGAACG -3'

Posted On

2020-06-30